A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521974



Internal ID19905404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:63582172..64192373hg38UCSC Ensembl
chr5:62877999..63488200hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38610202
hg19610202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976798
Samples
Known GenesHTR1A, RNF180
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4521974
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer